Non-invasive Prenatal Diagnostic Validation Study (NIPD)

This study has been completed.

Sponsor:

Natera, Inc.

ClinicalTrials.gov Identifier:

NCT01574781

First Posted: April 10, 2012

Last Update Posted: July 2, 2013

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government.
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Fetal chromosome abnormality from a maternal plasma sample [ Time Frame: From date of initial blood draw until the date of pregnancy end (miscarriage/termination) or time of birth, whichever came first, assessed up to 10 months ]

Maternal plasma will be drawn at the time at which they present while pregnant as long as they are at least 6 weeks along. Additional samples (for confirmation of chromosome makeup) may also be drawn on that fetus when fetal sampling is possible (termination, miscarriage) or on the child at or shortly after birth.

Women carrying fetus that is identified as chromosomally abnormal by CVS/Amniocentesis

Procedure: Blood draw

Blood is drawn at the appropriate time given their cohort inclusion.

Other Names:

Non-Invasive Prenatal Diagnosis

NIPD

Women experiencing miscarriage

Women identified as miscarrying, prior to any D&C or D&E procedure

Procedure: Blood draw

Blood is drawn at the appropriate time given their cohort inclusion.

Other Names:

Non-Invasive Prenatal Diagnosis

NIPD

Born children

The children born from women participating in other cohorts of the study.

Procedure: Cheek swab/Saliva Sampling

In lieu of blood draw, male relatives may donate cheek swab or saliva sample. Children born to participating women can donate cheek swab or saliva sample soon after birth.

Other Names:

Non-Invasive Prenatal Diagnosis

NIPD

Male relatives

The male partners (and presumed biological father of any fetuses/children) of women participating in other cohorts of the study or the biological father's brother and/or father.

Procedure: Blood draw

Blood is drawn at the appropriate time given their cohort inclusion.

Other Names:

Non-Invasive Prenatal Diagnosis

NIPD

Procedure: Cheek swab/Saliva Sampling

In lieu of blood draw, male relatives may donate cheek swab or saliva sample. Children born to participating women can donate cheek swab or saliva sample soon after birth.

Other Names:

Non-Invasive Prenatal Diagnosis

NIPD

Non-pregnant women

Healthy women who are not pregnant

Procedure: Blood draw

Blood is drawn at the appropriate time given their cohort inclusion.

Other Names:

Non-Invasive Prenatal Diagnosis

NIPD

Pregnant women

Procedure: Blood draw

Blood is drawn at the appropriate time given their cohort inclusion.

Other Names:

Non-Invasive Prenatal Diagnosis

NIPD

Detailed Description:

The investigators will seek to enroll subjects to collect the following types of samples:

Up to 2,000 maternal blood samples along with their corresponding paternal blood, buccal or saliva samples (1,000 required for final analysis).

Up to 200 maternal blood samples from carrying a fetus with a confirmed chromosomal abnormality or genetic disorder, along with their corresponding paternal blood, buccal or saliva samples (50 required for final analysis). For women who opted for termination, a genetic sample of the fetus may also be collected.

Up to 1,000 buccal or saliva samples from paternal grandfathers and/or the biological father's brothers.

Up to 1,000 cord, buccal or saliva samples from the born children.

Up to 40 blood samples (20 non-pregnant females and 20 males) from healthy volunteers (20 required for final analysis)

Up to 400 blood samples from women undergoing D&C procedure following a miscarriage along with corresponding paternal blood (or buccal or saliva samples) (200 required for final analysis).

Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Pregnant women who volunteer to donate blood sample during the first -, second- and/or third trimester

The biological father of the child (or the father's brother and/or father) has to be at least 18 years of age and consent to his blood, buccal, or saliva collection.

Pregnant women whose fetus was diagnosed with a chromosomal abnormality or genetic disorder by either amniocentesis or chorionic villus sampling who volunteer to donate a blood sample.

Pregnant women who volunteer to donate a blood sample after their spontaneous miscarriage prior to undergoing D&C procedure and who choose to utilize Natera's commercial products of conception molecular karyotyping service.

Healthy volunteers (non-pregnant female and male) who volunteer to donate their blood sample.

Umbilical cord blood or cheek swab/saliva samples from born children o Pregnant women who have participated in donating a blood sample during their pregnancy have the option to donate either an umbilical cord blood sample after child delivery, or a cheek swab or saliva sample from the born child using Natera's home kit.

Exclusion Criteria:

Women carrying multiples

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01574781